Results 51 to 60 of about 16,672 (213)

Selected forms of therapy of a child with DiGeorge syndrome. A case study

Journal of Modern Science
DiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and ...
Edyta Ewelina Osękowska, Natalia Malik, Malwina Dąbek, Magdalena Maria Skalny   +3 more
doaj   +1 more source

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Case Reports in Pediatrics, 2016
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa   +3 more
doaj   +1 more source

Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. [PDF]

PLoS ONE, 2012
The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant ...
Jingjing Zhou, Mohammad Pashmforoush, Henry M Sucov   +2 more
doaj   +1 more source

Tetralogy of F allot with Complete D i G eorge Syndrome: Report of a Case and a Review of the Literature [PDF]

, 2012
Complete D i G eorge syndrome ( CDGS ) has a severe T ‐cell immunodeficiency and is fatal without thymus or bone marrow transplantation. Associated congenital heart disease ( CHD ) further complicates the clinical management.
Humes, Richard A., Kobayashi, Daisuke, Sallaam, Salaam   +2 more
core   +1 more source

Immune Evasion of Helicobacter pylori and Extra‐Gastric Cancer Risk

Journal of Gastroenterology and Hepatology, EarlyView.
ABSTRACT Helicobacter pylori (H. pylori) is a group 1 gastric carcinogen that plays a significant role in extra‐gastric digestive system cancers. H. pylori disrupts host cell homeostasis through expression of virulence factors leading to immune evasion as well as persistent gastric mucosal colonization. H. pylori infection has been shown to play a role
Evren Doruk Engin, Ayse Basak Engin, Atilla Engin   +2 more
wiley   +1 more source

Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity [PDF]

, 2015
The 22q11 deletion syndromes represent a spectrum of overlapping conditions including cardiac defects and craniofacial malformations. Amongst the craniofacial anomalies that are seen, cleft of the secondary palate is a common feature.
Brock, Lara J., Cobourne, Martyn T., Economou, Andrew D., Green, Jeremy B A   +3 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Schizophrenia is a TH2 dominant autoimmune disease possibly against acetylcholine receptors of CNS [PDF]

, 2012
Schizophrenia is a very common psychiatric disorder. However, its etiology and pathogenesis is still unknown. Current theory saying that neurotransmitter imbalance such as serotonin or dopamine only provides limited effectiveness in schizophrenia ...
Wanchung(Wan-Jiung) Hu
core   +1 more source

Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183) [PDF]

, 1995
The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) and a minority of patients with non-syndromic conotruncal heart defects are hemizygous for a region of chromosome 22q11.
Deelen, W.H. (Wouter), Drunen, E. (Ellen) van, Hagemeijer, A. (Anne), Halley, D.J.J. (Dicky), Langeveld, A. (An), Meijers, C. (Carel), Mulder, M.P. (Maarten), Ouweland, A.M.W. (Ans) van den, Riegman, P.H.J. (Peter), Wilke, M. (Martina), Wilming, L.G. (Laurens), Zwarthoff, E.C. (Ellen)   +11 more
core   +1 more source

Domain associated with zinc fingers‐containing NF90‐NF45 complex inhibits m6A modification of primary microRNA by suppressing METTL3/14 activity

FEBS Open Bio, Volume 16, Issue 5, Page 921-931, May 2026.
NF90–NF45 functions as a negative regulator of methyltransferase‐like 3/14 (METTL3/14)‐mediated N6‐methyladenosine (m6A) modification on primary microRNAs (pri‐miRNAs). NF90–NF45 binds to anti‐oncogenic pri‐miRNAs and inhibits their m6A modification, thereby suppressing the biogenesis of anti‐oncogenic miRNAs.
Takuma Higuchi, Shunsuke Morioka, Keiko Morisawa, Kazutsugu Matsukawa, Shingo Ashida, Takeshi Suzuki, Shuji Sakamoto   +6 more
wiley   +1 more source